Niemann Pick Disease Type C

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Niemann Pick Disease Type C is not the name you expected.

Disorder Subdivisions

None

General Discussion

SummaryNiemann-Pick disease type C (NPC) is a rare progressive genetic disorder characterized by an inability of the body to transport cholesterol and other fatty substances (lipids) inside of cells. This leads to the abnormal accumulation of these substances within various tissues of the body, including brain tissue. The accumulation of these substances damages the affected areas. NPC is highly variable and the age of onset and specific symptoms can vary from one person to another, sometimes even among members of the same family. NPC can range from a fatal disorder within the first few months after birth (neonatal period) to a late onset, chronic progressive disorder that remains undiagnosed well into adulthood. Most cases are detected during childhood and progress to cause life-threatening complications by the second or third decade of life. NPC is caused by mutations in the NPC1 gene (NPC type 1C) or the NPC2 gene (NPC type 2C) and is inherited in an autosomal recessive manner.IntroductionNPC belongs to a larger group of more than 50 disorders known as lysosomal storage disorders. Lysosomes are membrane-bound compartments within cells. They contain enzymes that break down large molecules such as proteins, carbohydrates and fats into their building blocks. Abnormal functioning of a transport protein leads to the accumulation of cholesterol and other fatty substances in various tissues of the body, including brain tissue. NPC used to be grouped together with two other disorders, named Niemann-Pick disease type A and Niemann-Pick disease type B. However, researchers have determined that the underlying defect in types A and B involves mutations in the SMPD1 gene and deficiency of the enzyme acid sphingomyelinase, which does not occur in NPC. Niemann-Pick disease types A and B are now considered a distinct disorder called acid sphingomyelinase deficiency. NORD has a separate report in the Rare Disease Database on this disorder.

Niemann-Pick disease type D is an obsolete term for a condition in a group of individuals in Nova Scotia, Canada who have NPC due to a specific founder mutation of the NPC1 gene. This form is clinically indistinguishable from NPC. Additional terms have been used in the past to describe NPC including DAF syndrome, juvenile dystonic lipidosis, lipid histiocytosis, and sea blue histiocyte disease. These terms are now considered obsolete.

Supporting Organizations

Ara Parseghian Medical Research Foundation

4729 E Sunrise Dr.

Suite 327

Tucson, AZ 85718-4535

USA

Tel: (520)577-5106

Fax: (520)577-5212

Email: promano@parseghian.org

Website: http://www.parseghian.org

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, CW2 6BG

United Kingdom

Tel: 4408452412173

Fax: 4408452412174

Email: enquiries@climb.org.uk

Website: http://www.CLIMB.org.uk

GOLD, Global Organisation For Lysosomal Diseases

3 Albion Rd

Chalfont St Giles

Buckinghamshire, HP8 4EW

United Kingdom

Tel: 441494870708

Email: enquiries@goldinfo.org

Website: http://www.goldinfo.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

Hide &#038; Seek Foundation for Lysosomal Disease Research

6475 East Pacific Coast Highway Suite 466

Long Beach, CA 90803

Tel: (877)621-1122

Fax: (866)215-8850

Email: info@hideandseek.org

Website: http://www.hideandseek.org

Instituto de Errores Innatos del Metabolismo

Carrera 7 No 40 - 62

Bogota,

Colombia

Tel: 5713208320

Email: abarrera@javeriana.edu.co

Website: http://www.javeriana.edu.co/ieim/programas_ieim.htm

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Website: http://www.ninds.nih.gov/

National Niemann-Pick Disease Foundation, Inc.

401 Madison Avenue

Suite B

Fort Atkinson, WI 53538-0049

Tel: (920)563-0930

Fax: (920)563-0931

Tel: (877)287-3672

Email: nnpdf@nnpdf.com

Website: http://www.nnpdf.org

National Tay-Sachs and Allied Diseases Association, Inc.

2001 Beacon Street

204

Brookline, MA 02146-4227

USA

Tel: (617)277-4463

Fax: (617)277-0134

Tel: (800)906-8723

Email: info@ntsad.org

Website: http://www.NTSAD.org

Niemann-Pick Disease Group (UK)

Suite 2, Vermont House

Concord

Tyne and Wear, NE37 2SQ

United Kingdom

Tel: 4401914150693

Email: niemann-pick@zetnet.co.uk

Website: http://www.niemannpick.org.uk

Vaincre Les Maladies Lysosomales

2 Ter Avenue

Massy, 91300

France

Tel: 169754030

Fax: 160111583

Email: accueil@vml-asso.org

Website: http://www.vml-asso.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 7/17/2015Copyright 2014 National Organization for Rare Disorders, Inc.

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